Canonical Allele Identifier: CA10607152
Gene: DBT HGNC NCBI

Linked Data

ClinVar Variation Id: 291406
ClinVar RCV Id: RCV000280316 RCV001668628
dbSNP Id: rs11166413
gnomAD v2: 1-100656494-A-G
gnomAD v3: 1-100190938-A-G
gnomAD v4: 1-100190938-A-G
MyVariant Identifiers: chr1:g.100656494A>G (hg19) chr1:g.100190938A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.100190938A>G , CM000663.2:g.100190938A>G GRCh38
NC_000001.10:g.100656494A>G , CM000663.1:g.100656494A>G GRCh37
NC_000001.9:g.100429082A>G NCBI36
NG_011852.2:g.63916T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370132.8:c.*5317T>C MANE Select ENSP00000359151.3:n.*5317T>C
NM_001918.3:c.*5317T>C NP_001909.3:n.*5317T>C
NM_001918.4:c.*5317T>C NP_001909.3:n.*5317T>C
NM_001918.5:c.*5317T>C MANE Select NP_001909.4:n.*5317T>C
NM_001399969.1:c.*5317T>C NP_001386898.1:n.*5317T>C
NM_001399972.1:c.*5317T>C NP_001386901.1:n.*5317T>C
NR_174363.1:n.6598T>C
NR_174364.1:n.6939T>C
NR_174365.1:n.6563T>C
NR_174366.1:n.6865T>C
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